RMDisease V2.0 an updated database of genetic variants that affect RNA modifications with disease and trait implication
Basic Info Genetic Variant RNA Binding Protein RNA Binding Protein miRNA Target miRNA Target Splicing Site Splicing Site ClinVar Annotation ClinVar Annotation GWAS Annotation GWAS Annotation

Basic information of m6A-containing region involved in : human_psi_associatedSNP_1

RM ID human_psi_associatedSNP_1
Modification Type PSI
Species Human
Chromosome chr1
Position 45285624
Strand (-)
Reference Sequence
ATAAATCTTTCGCCTTTTACTAAAGATTTCCGTGGAGAGAA
Alterative Sequence
ATAAATCTTTCGCCTTTTACCAAAGATTTCCGTGGAGAGAA
Gene PTCH2
Gene Type protein_coding
Gene Region 3' UTR
Gene ID (Ensembl or others) ENSG00000117425
Modification Status human psi-loss variant
Confidence Level high
Association Level 1
Supported Studies NA
Predicted RNA Secondary Structure (Minimum Free Energy Fold by RNAFold) .(((((.(((((..(((((((((...(((...((((((((.(.......).)))))))).))))))))))))....)))))...)))))............ (-23.90)
Secondary Structure Graphical Visulization secondary structure
Genome Visualization         

Variant information : human_psi_associatedSNP_1

RM ID human_psi_associatedSNP_1
Variant Position chr1:45285624
Variant Source dbSNP (v151)
Ref Base A
Alt Base G
TCGA Project -
Barcode -
RS ID rs115827181
dbSNP View
Mut Region 3' UTR
Mut Tpye -
Deleterious Level 0
View this mutation in UCSC genome browser View
View this mutation in Ensembl genome browser View

Post-transcriptional regulation (RNA Binding Protein) involved in: human_psi_associatedSNP_1

RBP Database Study Binding Region
SRRM4 POSTAR2 GSE57278
GSM1378374
 chr1:45285540-45285640
UPF1 POSTAR2 GSE69586
GSM1704214
 chr1:45285540-45285660
FIP1L1 POSTAR2 GSE37401
GSM917675
 chr1:45285540-45285660
PTBP1 POSTAR2 GSE57278
GSM1378377
 chr1:45285540-45285660
CPSF6 POSTAR2 GSE37401
GSM917665
 chr1:45285553-45285627
CPSF7 POSTAR2 GSE37401
GSM917663
 chr1:45285555-45285664
CSTF2T POSTAR2 GSE37401
GSM917677
 chr1:45285559-45285663
CSTF2 POSTAR2 GSE37401
GSM917676
 chr1:45285561-45285629
CPSF1 POSTAR2 GSE37401
GSM917672
 chr1:45285566-45285626
TARDBP POSTAR2 DRA001158
DRS012385
 chr1:45285589-45285634
METTL14 POSTAR2 GSE46705
GSM1135015
 chr1:45285599-45285645
CPSF4 POSTAR2 GSE37401
GSM917667
 chr1:45285601-45285625
FUS POSTAR2 DRA001158
DRS012384
 chr1:45285601-45285626
LIN28A POSTAR2 GSE44616
GSM1087848
 chr1:45285601-45285630
ATXN2 POSTAR2 DRA001158
DRS012389
 chr1:45285601-45285643
METTL3 POSTAR2 GSE46705
GSM1135006
 chr1:45285601-45285645
WTAP POSTAR2 GSE46705
GSM1135011
 chr1:45285602-45285645
TIA1 POSTAR2 E-MTAB-432
ERR039776-ERR039778
 chr1:45285613-45285634
HNRNPC POSTAR2 E-MTAB-1371
ERR196176-ERR196177-ERR196178-ERR196181-ERR196182-ERR196185-ERR196186-ERR196188-ERR196189
 chr1:45285617-45285637
TIAL1 POSTAR2 E-MTAB-432
ERR039779-ERR039781-ERR039782
 chr1:45285617-45285638
DIS3L2 POSTAR2 GSE81537
GSM2155555
 chr1:45285620-45285640
FBL POSTAR2 GSE43666
GSM1067864
 chr1:45285620-45285640
HNRNPA1 POSTAR2 GSE34996
GSM859978-GSM859979-GSM859980-GSM859981
 chr1:45285620-45285640
NOP56 POSTAR2 GSE43666
GSM1067863
 chr1:45285620-45285640
NOP58 POSTAR2 GSE43666
GSM1067861
 chr1:45285620-45285640
NUDT21 POSTAR2 GSE37401
GSM917661
 chr1:45285620-45285640
PRPF8 POSTAR2 ENCODE
 chr1:45285582-45285625

Post-transcriptional regulation (miRNA Targets) involved in: human_psi_associatedSNP_1

miRNA Name Target RNA Target RNA Type Source Start Position End Position

Post-transcriptional regulation (Splicing Site) involved in: human_psi_associatedSNP_1

Gene Name Genomic Location Splicing Site Relative Position

Clinvar annotation of: human_psi_associatedSNP_1

Variant RS ID Significant Disease(s) Clinvar Accession

GWAS annotation of: human_psi_associatedSNP_1

Variant RS ID Pubmed ID Disease P value Database Type TagSNP Study_accession